This lesson will explore a condition known as Marfan syndrome. It's a potentially deadly disease that involves everything from the skeleton to the heart. Find out more as we take a look at why it occurs and how it may be treated.
When Being Tall and Thin Isn't a Good Sign
In our society, there are several things that are appreciated for a wide variety of reasons when it comes to our physique. We like to think that being tall is good. Taller people may get more respect or be better at sports. Another thing we seem to obsess about is weight. Being thin is considered attractive and healthy as much as being tall. But, in one unfortunate combination that this lesson will engage you with, being tall and thin is actually a sign of a potential disease.
What Is Marfan Syndrome?
Marfan syndrome is a genetic connective tissue disorder that affects the skeletal, cardiovascular and respiratory systems, as well as the eyes. Men or women of any race may be affected with this condition. Individuals who have a close relative, such as a parent, who is also affected with Marfan syndrome, are at increased risk of its development. This is because it's an autosomal dominant condition, meaning you only need one copy of the defective gene in order to get this disorder.
Why Does Marfan Syndrome Occur?
The genetic mutation that occurs in this condition leads your body's connective tissue to develop improperly. The connective tissue in your body is the tissue that provides your body with strength, flexibility, cohesion, and support. This isn't difficult to imagine. For instance, strength and support comes from your skeleton. Bones are a type of connective tissue. Bones are held together by ligaments, which is connective tissue. Muscles attach to bone via tendons, those are connective tissues. Connective tissue is found in just about any place you can possibly think of in your body: skin, blood vessels, eyes, and beyond.
The main protein that makes up connective tissue, collagen, is most certainly something you have heard of! Oh, and the adipose tissue, or body fat, people try so hard to desperately lose in order to become thin is also considered to be a type of connective tissue. As you can tell, even though the definition seemed vague, the examples of connective tissue are plenty and easy to understand.
Now that we're clear on what connective tissue is in the body, you can more easily appreciate how this genetic defect causes people trouble. Besides collagen, another important protein found in connective tissue is called elastin. Elastin is a protein found in connective tissue that is responsible for a tissue's flexibility upon stretching and returning to normal position upon relaxation of a force causing that stretch. In essence, elastin is responsible for the rubber band effect of places like your skin.
Go ahead! Try it out! Pinch your cheek and pull away as you do so. Or, you can ask your grandmother to do it for you. As soon as you let go, your skin pops back into place. Elastin allows for the stretch of your skin once it's pulled and is responsible for putting your skin back into position once your grandma lets go.
The problem in Marfan syndrome is that another protein, called fibrillin-1, is deficient. This is a protein responsible for the health and maintenance of elastic fibers, among many other things. Fibrillin's absence causes other problems as well, such as the initiation of an inflammatory cascade that degrades other proteins and structures of connective tissue.
Clinical Signs, Symptoms, and Diagnostics
The end result is that people's connective tissue is either destroyed, damaged, or doesn't develop properly, leading to:
- A tall, thin build
- Disproportionately long arms, legs, and fingers, as well as flexible joints
- Scoliosis, a condition where the spine curves to either side of the body
- A heart murmur
- Weak blood vessel walls that may rupture and cause death
- Poor eyesight
A doctor will use these signs, a person's family medical history, an eye exam, a heart exam via an echocardiogram, and many other things to try to diagnose this condition. It is difficult to diagnose Marfan syndrome because it can mimic a lot of different types of connective tissue disorders.
Treatment and Prevention of Marfan Syndrome
Once your doctor is sure they've got the right diagnosis of Marfan syndrome, therapy can begin with the knowledge that this condition cannot be cured. One of the absolute most important treatments in this condition involves your cardiovascular system. Recall that I said that blood vessels have connective tissue, and in this condition, the blood vessels may become weak as a result of the connective tissue disorder that is occurring.
That's kind of a big deal. Imagine if the hose in your backyard had weak walls. As soon as you turn on the water, it might burst. If the pressure in your blood vessels goes up too much, it may either cause a dilation or balloon-like bulge of the body's main artery, the aorta, called an aortic aneurysm. This balloon can potentially burst, leading to internal bleeding and death. Therefore, we give blood pressure medication to keep the blood pressure down and we may even perform surgery on the aorta in order to strengthen it and prevent it from bursting.
While a bursting aorta is never a good thing, reviewing this lesson's content matter is. Marfan syndrome is a genetic connective tissue disorder that affects the skeletal, cardiovascular, and respiratory systems, as well as the eyes.
The genetic mutation that occurs in this condition leads your body's connective tissue to develop improperly. The connective tissue in your body is your body's tissue that provides it with strength, flexibility, cohesion, and support. One example of connective tissue is known as adipose tissue, or more commonly as body fat. Connective tissue is made up of many different proteins, including elastin. Elastin is a protein found in connective tissue that is responsible for a tissue's flexibility upon stretching and returning to normal position upon relaxation of an outside force.
In Marfan syndrome, there's a protein called fibrillin-1 that is deficient. This is a protein responsible for the health and maintenance of elastic fibers, among many other things. Once there's a deficiency in fibrillin-1, not only do the elastic fibers suffer, but an inflammatory cascade is initiated that destroys other components of connective tissue. This results in defects, such as skeletal growth abnormalities, poor eyesight, weak blood vessels, and heart murmurs.
Once diagnosed, this condition needs to be treated with many medications, such as those that lower blood pressure. If the pressure in your blood vessels, the blood pressure, goes up too much, it may either cause a dilation or balloon-like bulge of the aorta, called an aortic aneurysm. If this occurs, and the aorta bursts open, the person will die!
Upon completing this lesson, you should be able to:
- Describe the function of connective tissue and the importance of elastin and fibrillin-1
- Identify the signs and symptoms of Marfan syndrome
- Explain the treatment for Marfan syndrome and the importance of managing blood pressure